Engel H - Search Results

1

Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0559.

Abbes AP, Engel H, Franken AA. Abbes AP, et al. Among authors: engel h. Hum Genet. 2006 Feb;118(6):783. Hum Genet. 2006. PMID: 17297715 No abstract available.

2

Identification of two distinct mutations at the same nucleotide position, concomitantly with a novel polymorphism in the vasopressin-neurophysin II gene (AVP-NP II) in two dutch families with familial neurohypophyseal diabetes insipidus.

Abbes AP, Bruggeman B, van Den Akker EL, de Groot MR, Franken AA, Drexhage VR, Engel H. Abbes AP, et al. Among authors: engel h. Clin Chem. 2000 Oct;46(10):1699-702. Clin Chem. 2000. PMID: 11017955 No abstract available.

3

Familial neurohypophysial diabetes insipidus in a large Dutch kindred: effect of the onset of diabetes on growth in children and cell biological defects of the mutant vasopressin prohormone.

Nijenhuis M, van den Akker EL, Zalm R, Franken AA, Abbes AP, Engel H, de Wied D, Burbach JP. Nijenhuis M, et al. Among authors: engel h. J Clin Endocrinol Metab. 2001 Jul;86(7):3410-20. doi: 10.1210/jcem.86.7.7686. J Clin Endocrinol Metab. 2001. PMID: 11443218

4

Gene symbol: HFE2a (HJV). Disease: juvenile hemochromatosis.

Klomp C, Abbes AP, Engel H. Klomp C, et al. Among authors: engel h. Hum Genet. 2005 Dec;118(3-4):545-6. Hum Genet. 2005. PMID: 16521298 No abstract available.

5

Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0558.

Abbes AP, Engel H, Bruggeman EJ, Franken AA. Abbes AP, et al. Among authors: engel h. Hum Genet. 2006 Feb;118(6):783. Hum Genet. 2006. PMID: 17297714 No abstract available.

6

Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0560.

Abbes AP, Davies JH, Penney M, Engel H, Gregory JW. Abbes AP, et al. Among authors: engel h. Hum Genet. 2006 Feb;118(6):783. Hum Genet. 2006. PMID: 17297716 No abstract available.

7

Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0561.

Abbes AP, Engel H, Klomp C, Bruggeman EJ. Abbes AP, et al. Among authors: engel h. Hum Genet. 2006 Feb;118(6):784. Hum Genet. 2006. PMID: 17297717 No abstract available.

8

[Identification of a new mutation (CysII6Gly) in a family with neurogenic diabetes insipidus].

van den Akker EL, de Groot MR, Abbes AP, Bruggeman EJ, Franken AA, Engel H. van den Akker EL, et al. Among authors: engel h. Ned Tijdschr Geneeskd. 2000 May 13;144(20):941-5. Ned Tijdschr Geneeskd. 2000. PMID: 10827849 Dutch.

9

Minor disturbances in central nervous system function in familial neurohypophysial diabetes insipidus.

Bruins J, Kovács GL, Abbes AP, Burbach JP, van den Akker EL, Engel H, Franken AA, de Wied D. Bruins J, et al. Among authors: engel h. Psychoneuroendocrinology. 2006 Jan;31(1):80-91. doi: 10.1016/j.psyneuen.2005.06.001. Epub 2005 Aug 25. Psychoneuroendocrinology. 2006. PMID: 16125866

10

Novel molecular defect in the platelet ADP receptor P2Y12 of a patient with haemorrhagic diathesis.

Remijn JA, IJsseldijk MJ, Strunk AL, Abbes AP, Engel H, Dikkeschei B, Dompeling EC, de Groot PG, Slingerland RJ. Remijn JA, et al. Among authors: engel h. Clin Chem Lab Med. 2007;45(2):187-9. doi: 10.1515/CCLM.2007.036. Clin Chem Lab Med. 2007. PMID: 17311506

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